ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.627GCC[4] (p.Pro214del)

dbSNP: rs746833511
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000456338 SCV000562121 likely benign Atrial septal defect 7 2024-01-11 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293212 SCV001434210 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research
Ambry Genetics RCV002367610 SCV002657924 likely benign Cardiovascular phenotype 2019-08-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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